@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_head
{
this:
np:hasAssertion
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_assertion
;
np:hasProvenance
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_assertion
a
np:Assertion
.
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_provenance
a
np:Provenance
.
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_assertion
{
miriam-gene:100856809
a
ncit:C16612
.
lld:C0020459
a
ncit:C7057
.
dgn-gda:DGNcf91f34e26799c738e47906015c63057
sio:SIO_000628
miriam-gene:100856809
,
lld:C0020459
;
a
sio:SIO_001121
.
}
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_provenance
{
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_assertion
dcterms:description
"[Restriction-endonuclease cleavage of DNA isolated from circulating leukocytes in the patient and in family members with hyperinsulinemia revealed loss of the MboII recognition site in one allele of the insulin gene--consistent with a point mutation at position 24 or 25 in the insulin B chain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:6371526
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:48:11+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}